Abstract：
Relapsing polychondritis is a rare inflammatory disease characterized by recurrent inflammation of cartilaginous structures, mainly of the ears, nose and respiratory tract, with a broad spectrum of accompanying systemic features. Despite its rarity, prompt recognition and accurate diagnosis of relapsing polychondritis is crucial for appropriate management and optimal outcomes. Our understanding of relapsing polychondritis has changed markedly in the past couple of years with the identification of three distinct patient clusters that have different clinical manifestations and prognostic outcomes. With the progress of pangenomic sequencing and the discovery of new somatic and monogenic autoinflammatory diseases, new differential diagnoses have emerged, notably the vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome, autoinflammatory diseases and immune checkpoint inhibitor-related adverse events. In this Review, we present a detailed update of the newly identified clusters and highlight red flags that should raise suspicion of these alternative diagnoses. The identification of these different clusters and mimickers has a direct impact on the management, follow-up and prognosis of patients with relapsing polychondritis and autoinflammatory syndromes.
摘要：
复发性多软骨炎是一种罕见的炎症性疾病，其特征是软骨结构的复发性炎症，主要是耳朵,鼻子和呼吸道，具有广泛的系统特征。尽管它很罕见,及时识别和准确诊断复发性多软骨炎对于适当的治疗和最佳结局至关重要.在过去的几年中，我们对复发性多软骨炎的理解发生了显着变化，确定了三个具有不同临床表现和预后结果的不同患者群。随着全基因组测序的进展和新的躯体和单基因自身炎性疾病的发现,新的鉴别诊断已经出现，特别是空泡，E1酶，X-linked,自身炎症,躯体（VEXAS）综合征，自身炎症性疾病和免疫检查点抑制剂相关的不良事件。在这篇评论中,我们提供了新发现的群集的详细更新,并突出显示了应该引起对这些替代诊断怀疑的危险信号.这些不同的群集和模拟者的识别对管理有直接的影响，复发性多软骨炎和自身炎症综合征患者的随访和预后。
